Roberts Fiona, Wisdom Stephen, Howatson Allan G, Imrie Stuart
University Department of Pathology, Western Infirmary, Dumbarton Road, Glasgow, G11 6NT, Scotland, UK.
Graefes Arch Clin Exp Ophthalmol. 2006 Feb;244(2):237-42. doi: 10.1007/s00417-005-0031-6. Epub 2005 Jul 19.
We report a case of unusual, bilateral developmental cataracts in a fetus with a supernumerary chromosome.
A 42-year-old woman presented during her 6th pregnancy for assessment of fetal karyotype. This showed a supernumerary chromosome derived from chromosome 21. Subsequently fetal ultrasound suggested the presence of bilateral cataracts and the pregnancy was terminated at 19 weeks and 3 days' gestation. Both eyes were submitted for histopathological and electron microscopical examination.
Histopathological examination revealed unusual bilateral developmental cataracts with abnormal bladder-type cells lining the posterior aspect of the lens vesicle, a poorly formed nuclear bow and a central mass of fibrillar material associated with macrophages lying within an area of liquefaction. Transmission electron microscopy revealed the presence of peg and socket joints in both central and posterior regions and degenerate crystallins in the posterior region.
We described an unusual case of developmental cataract diagnosed in utero by ultrasound. The morphological appearances suggest that the defect occurred during or after formation of the secondary lens fibres. Detailed descriptions of cases such as this one may contribute to our understanding of lens development and cataract formation.
我们报告了一例患有额外染色体的胎儿出现罕见双侧发育性白内障的病例。
一名42岁女性在其第6次妊娠期间前来评估胎儿核型。结果显示存在一条源自21号染色体的额外染色体。随后胎儿超声提示存在双侧白内障，妊娠于孕19周零3天终止。双眼均进行了组织病理学和电子显微镜检查。
组织病理学检查显示双侧发育性白内障罕见，晶状体泡后部有异常的膀胱型细胞，核弓形成不良，中央有一团纤维状物质，与液化区域内的巨噬细胞相关。透射电子显微镜检查显示中央和后部区域均存在栓状和窝状连接，后部区域有变性的晶状体蛋白。
我们描述了一例经超声在子宫内诊断出的罕见发育性白内障病例。形态学表现提示缺陷发生在次级晶状体纤维形成期间或之后。此类病例的详细描述可能有助于我们理解晶状体发育和白内障形成。
